Sunday, July 30, 2017

Impact of diabetes in the Friedreich ataxia clinical outcome measures study

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Ashley McCormick, Jennifer Farmer, Susan Perlman, Martin Delatycki, George Wilmot, Katherine Matthews, Grace Yoon, Chad Hoyle, Sub H. Subram...
Saturday, July 22, 2017

Pharmacological therapeutics in Friedreich Ataxia: The present state

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Cassandra Strawser, Kimberly Schadt, Lauren Hauser, Ashley McCormick, Mckenzie Wells, Jane Larkindale, Hong Lin & David R Lynch; Expert ...
Friday, July 21, 2017

Nicotinamide mononucleotide requires SIRT3 to improve cardiac function and bioenergetics in a Friedreich’s ataxia cardiomyopathy model

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Angelical S. Martin, Dennis M. Abraham, Kathleen A. Hershberger, Dhaval P. Bhatt, Lan Mao, Huaxia Cui, Juan Liu, Xiaojing Liu, Michael J. Mu...
Wednesday, July 19, 2017

Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

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Qian Liu, Peng Zhang, Depeng Wang, Weihong Gu and Kai Wang; Genome Medicine 20179:65 DOI: 10.1186/s13073-017-0456-7 Microsatellite expansi...
Wednesday, July 12, 2017

Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients

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M. Seco-Cervera, D. González-Rodríguez, J. S. Ibáñez-Cabellos, L. Peiró-Chova, P. González-Cabo, E. García-López, J. J. Vílchez, I. Sanz-Gal...
Tuesday, July 11, 2017

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

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Geneieve Tai, Eppie M. Yiu, Martin B. Delatycki, Louise A. Corben; J Neurol (2017). doi:10.1007/s00415-017-8566-0 The aims of this study w...
Sunday, July 9, 2017

Drosophila melanogaster Models of Metal-Related Human Diseases and Metal Toxicity

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Pablo Calap-Quintana, Javier González-Fernández, Noelia Sebastiá-Ortega, José Vicente Llorens, Orcid and María Dolores Moltó; Int. J. Mol. S...
Wednesday, July 5, 2017

Selected missense mutations impair frataxin processing in Friedreich ataxia

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Elisia Clark, Jill S. Butler, Charles J. Isaacs, Marek Napierela and David R. Lynch; Annals of Clinical and Translational Neurology. doi: 10...
Thursday, June 29, 2017

Friedreich’s ataxia associated with marfanoid features & alopecia areata-rare disease manifestations or chance association?

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Chandramohan Sharma, Banshilal Kumawat, Maulik Panchal, Kaushik Rana, Indian Journal of Medical Specialities, Available online 19 June 2017,...
Wednesday, June 28, 2017

Cerebellar ataxia and intrathecal baclofen therapy: Focus on patients´ experiences

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Berntsson SG, Landtblom A-M, Flensner G; PLoS ONE 12(6): e0180054. https://doi.org/10.1371/journal.pone.0180054 Elucidating patients´ expe...